Palliative Care in Spinal Muscular Atrophy (SMA) 1 (ASI1)

This study is currently recruiting participants. (see Contacts and Locations)
Verified August 2013 by Assistance Publique - Hôpitaux de Paris
Sponsor:
Information provided by (Responsible Party):
Assistance Publique - Hôpitaux de Paris
ClinicalTrials.gov Identifier:
NCT01862042
First received: July 20, 2012
Last updated: August 2, 2013
Last verified: August 2013
  Purpose

The purpose of this study is to evaluate the quality of supportive and palliative care for SMA type 1 patients.


Condition Intervention
Spinal Muscular Atrophy 1
Other: Follow-up diary and questionnaire

Study Type: Interventional
Study Design: Intervention Model: Single Group Assignment
Masking: Open Label
Primary Purpose: Supportive Care
Official Title: Evaluation of Palliative and Supportive Care for Spinal Muscular Atrophy (SMA) Type 1 Patients

Resource links provided by NLM:


Further study details as provided by Assistance Publique - Hôpitaux de Paris:

Primary Outcome Measures:
  • %O2 [ Time Frame: until 2 years ] [ Designated as safety issue: No ]
    Quantitative evaluation of care : oxygen therapy and Invasive ventilation


Secondary Outcome Measures:
  • Qualitative evaluation of the practices of care [ Time Frame: until 2 years ] [ Designated as safety issue: No ]
    Analysis of the semi-structured questionnaire completed remotely by the methods of analysis semi-qualitative. Identification of the principal challenges faced by parents and satisfaction criteria or non-face to the proposed solutions.

  • Evaluation of nutritional status [ Time Frame: until 2 years ] [ Designated as safety issue: No ]
    Quantitative evaluation of care : nutritional status and enteral nutrition

  • Evaluation of orthopedic facilities [ Time Frame: until 2 years ] [ Designated as safety issue: No ]
    Quantitative evaluation of care : kinesitherapy and orthopedic facility

  • Evaluation of comfort [ Time Frame: until 2 years ] [ Designated as safety issue: No ]
    quantitative evaluation of care : criterion for pain analgesics and sedatives care


Estimated Enrollment: 50
Study Start Date: June 2012
Estimated Study Completion Date: December 2018
Estimated Primary Completion Date: June 2016 (Final data collection date for primary outcome measure)
Arms Assigned Interventions
Supportive and Palliative care
A follow-up diary will be completed by the families and the different practitioners working with the patient. One year after the death of the patient, a questionnaire will be proposed to the parents of the child by a psychologist.
Other: Follow-up diary and questionnaire
A follow-up diary will be completed by the families and the different practitioners working with the patient. One year after the death of the patient, a questionnaire will be proposed to the parents of the child by a psychologist.
Other Name: Supportive and Palliative care

Detailed Description:

Spinal Muscular Atrophy Type I (SMA I) is the most severe form of SMA. It presents in infancy and death occurs by 2 years. There is actually no curative treatment for this pathology. Support and help must be provided from the time of presentation till death and usually this period is quite short, about a couple of months. Variations in medical practice have be seen, depending on the medical experience and sometimes coupled with differences in family resources and values. The aim of the study is to evaluate the needs of the patients and their families, the medical practices, and to describe a cohort of SMA type 1 patients with the natural history of this disease. For this, a follow-up diary will be done, and this diary will be completed by the families and the different practitioners working with the patient. Will be noted in it : physical signs, all therapeutic choices and actions, evaluation of the pain and treatments. A special part of this follow-up diary will be completed by the medical doctors, after the death of the patient, with all the medication used at time of death and the conditions of the death. One year after the death of the patient, a questionnaire will be proposed to the parents of the child by a psychologist. This questionnaire will estimate the benefice of the follow-up diary, and the improvements to give in the diagnostic strategies, recommendations for assessment and monitoring, and therapeutic interventions in SMA type 1.

  Eligibility

Ages Eligible for Study:   up to 1 Year
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Criteria

Inclusion Criteria:

  • SMA type 1 under 1 an
  • Genetic confirmation

Exclusion Criteria:

  • No genetic confirmation
  • SMA type 1 over 1 year
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT01862042

Contacts
Contact: Aude Le Divenah, MD, PhD +33 6 83 36 26 25 aude.ledivenah@nck.aphp.fr
Contact: Laurence Lecomte, PhD +33 1 71 19 64 94 laurence.lecomte@nck.aphp.fr

Locations
France
Necker Hospital Recruiting
Paris, France, 75015
Contact: Aude Le Divenah, MD    +33 6 83 36 26 25    aude.ledivenah@nck.aphp.fr   
Sponsors and Collaborators
Assistance Publique - Hôpitaux de Paris
Investigators
Study Chair: Isabelle Desguerre, MD, PhD Necker Hospital
  More Information

Publications:
Responsible Party: Assistance Publique - Hôpitaux de Paris
ClinicalTrials.gov Identifier: NCT01862042     History of Changes
Other Study ID Numbers: AOM 11183
Study First Received: July 20, 2012
Last Updated: August 2, 2013
Health Authority: France: Ministry of Health

Keywords provided by Assistance Publique - Hôpitaux de Paris:
Spinal Muscular Atrophy (SMA) type 1
Supportive care
Palliative care

Additional relevant MeSH terms:
Muscular Atrophy
Muscular Atrophy, Spinal
Spinal Muscular Atrophies of Childhood
Atrophy
Neuromuscular Manifestations
Neurologic Manifestations
Nervous System Diseases
Pathological Conditions, Anatomical
Signs and Symptoms
Spinal Cord Diseases
Central Nervous System Diseases
Motor Neuron Disease
Neurodegenerative Diseases
Neuromuscular Diseases
Heredodegenerative Disorders, Nervous System
Genetic Diseases, Inborn

ClinicalTrials.gov processed this record on July 28, 2014